Results 61 to 70 of about 92,369 (257)

Large‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases

Advanced Science, EarlyView.
Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...
Jianqing Li, Yijun Ge, Jingxiao Du, Liu Yang, Bangsheng Wu, Chenyue Hang, Mengxi Shen, Yimin Mao, Ting Zhang, Qiyu Bo, Tianyuan Zhao, Yutian Jiao, Yazhi Wang, Shunxiang Gao, Jieqiong Chen, Junran Sun, Tong Li, Huixun Jia, Yang Dou, Wei Cheng, Xiaoling Wan, Jintai Yu, Xiaodong Sun, Bai Lu   +23 more
wiley   +1 more source

Interactions between maternal provisioning and natural selection on seed mass fluctuate across heat waves

American Journal of Botany, EarlyView.
Abstract Premise Changing climates are leading to more frequent and severe heat waves, potentially threatening plant populations. Both acclimation to stress and selection for heat‐escape or heat‐resistance phenotypes occur during heat waves. However, plastic responses and selection do not necessarily interact cohesively—even producing trait responses ...
Lana F. Gaspard, Elissa Harb, Stacy D. Holt Jr., Courtney M. Patterson, Nicholas J. Kooyers   +4 more
wiley   +1 more source

Seasonal variation in wind speed and oceanic salt spray favors delayed reproduction in coastal yellow monkeyflowers

American Journal of Botany, EarlyView.
Abstract Premise The optimal timing of reproduction depends on the relative risk and benefit of continued growth. These risks and benefits depend on the local environment, which varies seasonally. While temperature and water availability are well‐studied selective agents on reproductive timing, less is known about other seasonally variable factors ...
Katherine Toll, Chloe Crockett, Lauren Tocci, David B. Lowry   +3 more
wiley   +1 more source

Heritability in frontotemporal tauopathies

Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, 2019
Introduction Exploring the degree of heritability in a large cohort of frontotemporal lobar degeneration with tau‐immunopositive inclusions (FTLD‐tau) and determining if different FTLD‐tau subtypes are associated with stronger heritability will provide ...
Shelley L. Forrest, Glenda M. Halliday, Heather McCann, Andrew B. McGeachie, Ciara V. McGinley, John R. Hodges, Olivier Piguet, John B. Kwok, Maria G. Spillantini, Jillian J. Kril   +9 more
doaj   +1 more source

Heritability of Malaria in Africa

PLoS Medicine, 2005
While many individual genes have been identified that confer protection against malaria, the overall impact of host genetics on malarial risk remains unknown.We have used pedigree-based genetic variance component analysis to determine the relative contributions of genetic and other factors to the variability in incidence of malaria and other infectious
Mackinnon, MJ, Mwangi, TW, Snow, RW, Marsh, K, Williams, TN   +4 more
openaire   +6 more sources

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

High heritability is compatible with the broad distribution of set point viral load in HIV carriers.

PLoS Pathogens, 2015
Set point viral load in HIV patients ranges over several orders of magnitude and is a key determinant of disease progression in HIV. A number of recent studies have reported high heritability of set point viral load implying that viral genetic factors ...
Sebastian Bonhoeffer, Christophe Fraser, Gabriel E Leventhal   +2 more
doaj   +1 more source

“It's Not Deterministic and It Will Never Be Deterministic”: A Qualitative Study on Stakeholder Perspectives of Polygenic Risk Score Testing for Post‐Traumatic Stress Disorder

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Post‐traumatic stress disorder (PTSD) causes significant mental and physical distress, yet only a small subset of individuals exposed to trauma develop the disorder. Scientists and clinicians are still unable to predict who will get the disorder or how it will manifest.
Brandy M. Fox
wiley   +1 more source

Assessment of Genetic Correlations Between Tobacco or Alcohol Use and Neurodegenerative Diseases Using East Asian Genetic Ancestry Genome‐Wide Association Study Results

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Alzheimer's disease (AD) and Parkinson's disease (PD) are the most prevalent late‐onset neurodegenerative diseases worldwide. Both are influenced in part by genetic factors and are currently incurable. Tobacco and alcohol, the two most common substances used among the general adult population, are potential AD/PD risk factors and are also ...
Linda Wang, Wiame Belbellaj, Frida Lona‐Durazo, Sarah A. Gagliano Taliun   +3 more
wiley   +1 more source